A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737503



Internal ID9971842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:120522199..120522466hg38UCSC Ensembl
Outerchr8:121534439..121534706hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6787147
SamplesSSM069
Known GenesMTBP
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2737503
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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